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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-10877350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10877350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10877350,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000246.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_000246.4",
"protein_id": "NP_000237.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1130,
"cds_start": 20,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 16061,
"mane_select": "ENST00000324288.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "ENST00000324288.14",
"protein_id": "ENSP00000316328.8",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1130,
"cds_start": 20,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 16061,
"mane_select": "NM_000246.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "ENST00000381835.9",
"protein_id": "ENSP00000371257.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 546,
"cds_start": 20,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.20G>A",
"hgvs_p": null,
"transcript": "ENST00000537380.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.135G>A",
"hgvs_p": null,
"transcript": "ENST00000573309.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_001286402.1",
"protein_id": "NP_001273331.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1131,
"cds_start": 20,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_001379332.1",
"protein_id": "NP_001366261.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1131,
"cds_start": 20,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "ENST00000618327.4",
"protein_id": "ENSP00000485010.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 1131,
"cds_start": 20,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_001379333.1",
"protein_id": "NP_001366262.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1130,
"cds_start": 20,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_001379330.1",
"protein_id": "NP_001366259.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1082,
"cds_start": 20,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_001379331.1",
"protein_id": "NP_001366260.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1081,
"cds_start": 20,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "NM_001286403.2",
"protein_id": "NP_001273332.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 546,
"cds_start": 20,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 14309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "XM_047434120.1",
"protein_id": "XP_047290076.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1131,
"cds_start": 20,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "XM_047434122.1",
"protein_id": "XP_047290078.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1130,
"cds_start": 20,
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"cdna_start": 153,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "XM_047434126.1",
"protein_id": "XP_047290082.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1082,
"cds_start": 20,
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"cdna_start": 153,
"cdna_end": null,
"cdna_length": 15921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "XM_047434127.1",
"protein_id": "XP_047290083.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
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"cds_start": 20,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "XM_047434128.1",
"protein_id": "XP_047290084.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1081,
"cds_start": 20,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.141G>A",
"hgvs_p": null,
"transcript": "ENST00000570546.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.20G>A",
"hgvs_p": null,
"transcript": "ENST00000571186.5",
"protein_id": "ENSP00000459829.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262151",
"gene_hgnc_id": null,
"hgvs_c": "n.341C>T",
"hgvs_p": null,
"transcript": "ENST00000573071.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.20G>A",
"hgvs_p": null,
"transcript": "ENST00000618207.4",
"protein_id": "ENSP00000484761.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.125G>A",
"hgvs_p": null,
"transcript": "ENST00000695878.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.149G>A",
"hgvs_p": null,
"transcript": "NR_104444.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 14251,
"mane_select": null,
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}